Canonical Allele Identifier: CA1590777519
Gene: CSF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150070391_150070392delinsCA , CM000667.2:g.150070391_150070392delinsCA GRCh38
NC_000005.9:g.149449954_149449955delinsCA , CM000667.1:g.149449954_149449955delinsCA GRCh37
NC_000005.8:g.149430147_149430148delinsCA NCBI36
NG_012303.1:g.47981_47982delinsTG
NG_012303.2:g.47981_47982delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000675795.1:c.1198+64_1198+65delinsTG MANE Select ENSP00000501699.1:n.1198+64_1198+65delinsTG
ENST00000286301.7:c.1198+64_1198+65delinsTG ENSP00000286301.3:n.1198+64_1198+65delinsTG
ENST00000504875.5:c.1198+64_1198+65delinsTG ENSP00000422212.1:n.1198+64_1198+65delinsTG
NM_001288705.1:c.1198+64_1198+65delinsTG NP_001275634.1:n.1198+64_1198+65delinsTG
NM_005211.3:c.1198+64_1198+65delinsTG NP_005202.2:n.1198+64_1198+65delinsTG
NR_109969.1:n.1411+64_1411+65delinsTG
NM_001288705.2:c.1198+64_1198+65delinsTG NP_001275634.1:n.1198+64_1198+65delinsTG
NM_001349736.1:c.1198+64_1198+65delinsTG NP_001336665.1:n.1198+64_1198+65delinsTG
NM_001288705.3:c.1198+64_1198+65delinsTG MANE Select NP_001275634.1:n.1198+64_1198+65delinsTG
NM_001375320.1:c.1198+64_1198+65delinsTG NP_001362249.1:n.1198+64_1198+65delinsTG
NM_001375321.1:c.754+64_754+65delinsTG NP_001362250.1:n.754+64_754+65delinsTG
NR_164679.1:n.1254+64_1254+65delinsTG
NM_001349736.2:c.1198+64_1198+65delinsTG NP_001336665.1:n.1198+64_1198+65delinsTG
NM_005211.4:c.1198+64_1198+65delinsTG NP_005202.2:n.1198+64_1198+65delinsTG
NR_109969.2:n.1325+64_1325+65delinsTG